255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2p15p16.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2p15p16.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
2p21 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2p21 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
2q23.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2q23.1 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
2q24 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2q24 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
2q32q33 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2q32q33 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
4q21 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
4q21 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
5q14.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
5q14.3 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
6p22 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
6p22 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
6q25 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
6q25 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
5q35 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
6q terminal deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
6q terminal deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal monosomy 10p (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 10p (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Gingival fibromatosis with facial dysmorphism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked intellectual disability Cabezas type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
X-linked mandibulofacial dysostosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked mandibulofacial dysostosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked myopathy with excessive autophagy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Vici syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Vici syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Vici syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Triphalangeal thumb	Occurrence	True	Congenital	Inferred relationship	Some	1
Naxos disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Polydactyly of triphalangeal thumb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Schmitt Gillenwater Kelly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
8q22.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
8q22.1 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
8q22.1 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
8q12 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Wilson Turner syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
X-linked distal arthrogryposis multiplex congenita (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked distal arthrogryposis multiplex congenita (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Renal dysplasia with limb defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Renal dysplasia with limb defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Renal dysplasia with limb defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Ulceration of umbilical cord and atresia of intestine syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ulceration of umbilical cord and atresia of intestine syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Van den Ende-Gupta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
trisomi Xq28-syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
trisomi Xq28-syndrom	Occurrence	False	Congenital	Inferred relationship	Some	3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Tel Hashomer camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Tel Hashomer camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Tel Hashomer camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Temtamy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Temtamy syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Temtamy syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Temtamy syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8

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Id	Description	Lang	Type	Status	Case?	Module
380598010	Congenital	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
380599019	Congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
646433016	Congenital (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)